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Muscular dystrophies and congenital myopathies in childhood

Poster (konferens)
Författare Brynja Kristin Thorarinsdottir
Mar Tulinius
Niklas Darin
Publicerad i Neuromuscular Disorders
Volym 21
Nummer/häfte 9-10
Sidor 746-747
ISSN 0960-8966
Publiceringsår 2011
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Institutionen för kliniska vetenskaper
Sidor 746-747
Språk en
Ämnesord Muscular dystrophies, congenital myopathies
Ämneskategorier Neurologi

Sammanfattning

Muscular dystrophies and congenital myopathies in childhood. Muscular dystrophies and congenital myopathies often produce a similar clinical picture of muscle weakness and atrophy. Population studies that include muscular dystrophies and congenital myopathies are rare, it is not well studied how common these disorders are. The aim of the study was to identify all the patients diagnosed with muscular dystrophies and congenital myopathies in childhood over a thirty year period, between 1979 and 2009. The geographic area studied was the region of western Sweden. We analyzed registers from local and regional pediatric hospitals and local and regional child rehabilitations, registers of muscle biopsies, neurophysiologic examinations and genetic analyses. The total number of identified cases were 221 patients. 131 patients with muscular dystrophies that were divided into 61 patients with Duchenne muscular dystrophy, 12 with Becker muscular dystrophy, 21 with limb-girdle muscular dystrophy, 15 with facioscapulohumeral muscle dystrophy, 3 with Emery-Dreifuss muscle dystrophy and 19 with congenital muscle dystrophy. 90 patients were diagnosed with congenital myopathy. The study will present the incidence, prevalence and relative frequency of these disorders in childhood.

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